KEGG   DISEASE: 常染色体劣性遺伝性脊髄小脳失調症Help
エントリ  
H01891                                                             

名称    
常染色体劣性遺伝性脊髄小脳失調症
概要    
常染色体劣性遺伝性脊髄小脳失調症 (SCAR) は、小脳、脊髄小脳、脊髄の感覚系伝導路および感覚神経に影響を及ぼす遺伝性神経変性疾患グループである。本疾患は、単純に小脳性症候群として現れることもあるが、末梢性神経障害、失調症、舞踏病、認知障害、視神経萎縮、けいれん発作などの神経的症状や、フリードライヒ運動失調症における心筋症や糖尿病のような神経以外の症状を伴うこともある。主な臨床症状は、しばしば転倒を伴うふらつき歩行、上肢推尺異常、発語障害、嚥下障害、眼球運動の異常である。
カテゴリ  
神経変性疾患
階層分類  
ヒト疾患 [BR:jp08402]
 神経系疾患
  神経変性疾患
   H01891  常染色体劣性遺伝性脊髄小脳失調症
ICD-11 による疾患分類 [BR:jp08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H01891  常染色体劣性遺伝性脊髄小脳失調症
BRITE hierarchy
病因遺伝子 
(SCAR1) SETX [HSA:23064] [KO:K10706]
(SCAR2) PMPCA [HSA:23203] [KO:K01412]
(SCAR7) TPP1 [HSA:1200] [KO:K01279]
(SCAR8) SYNE1 [HSA:23345] [KO:K19326]
(SCAR9) ADCK3 [HSA:56997] [KO:K08869]
(SCAR10) ANO10 [HSA:55129] [KO:K19327]
(SCAR11) SYT14 [HSA:255928] [KO:K19328]
(SCAR12) WWOX [HSA:51741] [KO:K19329]
(SCAR13) GRM1 [HSA:2911] [KO:K04603]
(SCAR14) SPTBN2 [HSA:6712] [KO:K06115]
(SCAR15) KIAA0226 [HSA:9711] [KO:K19330]
(SCAR16) STUB1 [HSA:10273] [KO:K09561]
(SCAR17) CWF19L1 [HSA:55280]
(SCAR18) GRID2 [HSA:2895] [KO:K05207]
(SCAR19) SLC9A1 [HSA:6548] [KO:K05742]
(SCAR20) SNX14 [HSA:57231] [KO:K17926]
(SCAR21) SCYL1 [HSA:57410] [KO:K08876]
(SCAR22) VWA3B [HSA:200403]
(SCAR23) TDP2 [HSA:51567] [KO:K19619]
(SCAR24) UBA5 [HSA:79876] [KO:K12164]
(SCAN1) TDP1 [HSA:55775] [KO:K10862]
コメント  
See also H00063 Spinocerebellar ataxia, H00067 Friedreich ataxia, and H00848 Ataxia with ocular apraxia.
SCAR19 is known as Lichtenstein-Knorr syndrome, and associates sensorineural hearing loss.
リンク   
ICD-11: 8A03.16
ICD-10: G31.9
MeSH: D020754
OMIM: 606002 213200 609270 610743 612016 613728 614229 614322 614831 615386 615705 615768 616127 616204 616291 616354 616719 607250 616948 616949 617133
文献    
  著者
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
  タイトル
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
  雑誌
Neurogenetics 11:1-12 (2010)
DOI:10.1007/s10048-009-0196-y
文献    
  著者
Choquet K, Zurita-Rendon O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tetreault M
  タイトル
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
  雑誌
Brain 139:e19 (2016)
DOI:10.1093/brain/awv362
文献    
  著者
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ
  タイトル
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
  雑誌
Hum Mutat 34:706-13 (2013)
DOI:10.1002/humu.22292
文献    
  著者
Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA
  タイトル
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
  雑誌
Nat Genet 39:80-5 (2007)
DOI:10.1038/ng1927
文献    
  著者
Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M
  タイトル
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
  雑誌
Am J Hum Genet 82:661-72 (2008)
DOI:10.1016/j.ajhg.2007.12.024
文献    
  著者
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N
  タイトル
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
  雑誌
Am J Hum Genet 87:813-9 (2010)
DOI:10.1016/j.ajhg.2010.10.015
文献    
  著者
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N
  タイトル
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
  雑誌
Am J Hum Genet 89:320-7 (2011)
DOI:10.1016/j.ajhg.2011.07.012
文献    
  著者
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M
  タイトル
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
  雑誌
Brain 137:411-9 (2014)
DOI:10.1093/brain/awt338
文献    
  著者
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L
  タイトル
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
  雑誌
Am J Hum Genet 91:553-64 (2012)
DOI:10.1016/j.ajhg.2012.07.019
文献    
  著者
Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M
  タイトル
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
  雑誌
Brain 133:2439-47 (2010)
DOI:10.1093/brain/awq181
文献    
  著者
Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B
  タイトル
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
  雑誌
PLoS One 8:e81884 (2013)
DOI:10.1371/journal.pone.0081884
文献    
  著者
Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsasser M, Pinkert S, Schlesner M, Bartram CR, Moog U
  タイトル
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
  雑誌
Am J Med Genet A 170:1502-9 (2016)
DOI:10.1002/ajmg.a.37632
文献    
  著者
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH
  タイトル
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
  雑誌
Neurology 81:1378-86 (2013)
DOI:10.1212/WNL.0b013e3182a841a3
文献    
  著者
Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M
  タイトル
Mutation of SLC9A1, encoding the major Na(+)/H(+) exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
  雑誌
Hum Mol Genet 24:463-70 (2015)
DOI:10.1093/hmg/ddu461
文献    
  著者
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagiroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Muller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG
  タイトル
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
  雑誌
Nat Genet 47:528-34 (2015)
DOI:10.1038/ng.3256
文献    
  著者
Schmidt WM, Kraus C, Hoger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Muller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE
  タイトル
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
  雑誌
EMBO Rep 8:691-7 (2007)
DOI:10.1038/sj.embor.7401001
文献    
  著者
Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF
  タイトル
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
  雑誌
EMBO J 26:4732-43 (2007)
DOI:10.1038/sj.emboj.7601885
文献    
  著者
Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R
  タイトル
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
  雑誌
J Neurol Neurosurg Psychiatry 87:656-62 (2016)
DOI:10.1136/jnnp-2014-309828
文献    
  著者
Gomez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R, Counihan TJ, Chaila E, Conroy J, Ennis S, Delanty N, Cortes-Ledesma F, de Brouwer AP, Cavalleri GL, El-Khamisy SF, de Vries BB, Caldecott KW
  タイトル
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.
  雑誌
Nat Genet 46:516-21 (2014)
DOI:10.1038/ng.2929
文献    
  著者
Duan R, Shi Y, Yu L, Zhang G, Li J, Lin Y, Guo J, Wang J, Shen L, Jiang H, Wang G, Tang B
  タイトル
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
  雑誌
PLoS One 11:e0149039 (2016)
DOI:10.1371/journal.pone.0149039

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